Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Paroxysmal nonkinesigenic dyskinesia
Synonyms	DKFZp564N1362
ID	http://www.limics.org/hrdo/rdfns#gen_id_17434
altLabel	DKFZp564N1362 DYT8 TAHCCP2 MGC31943 KIAA1184 KIPP1184 BRP17 PDC FKSG19 MR-1 FPD1
geneSymbol	PNKD
id_Ensembl	ENSG00000127838
id_Genatlas	PNKD
id_HGNC	9153
id_MIM	609023
id_SwissProt	Q8N490
prefixIRI	hrdo:gen_id_17434
prefLabel	Paroxysmal nonkinesigenic dyskinesia
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0700088	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0700088	MONDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/609218006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCTV2/F139000	RCTV2	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000808	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537181	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0700088	DOVES	LOOM
https://bio.scai.fraunhofer.de/ontology/epilepsy#paroxysmal_nonkinesigenic_dyskinesia	EPIO	LOOM
http://www.orpha.net/ORDO/Orphanet_98810	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/C537181	MESH	LOOM